CADM3[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 2489570	NM_001127173.3(CADM3):c.98C>T (p.Pro33Leu)	CADM3 (P33L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401043	NM_001127173.3(CADM3):c.136G>A (p.Val46Met)	CADM3 (V46M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639483	NM_001127173.3(CADM3):c.195T>G (p.Pro65=)	CADM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2263491	NM_001127173.3(CADM3):c.260C>T (p.Thr87Ile)	CADM3 (T121I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458822	NM_001127173.3(CADM3):c.266C>T (p.Thr89Met)	CADM3 (T123M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 161748	NM_001127173.3(CADM3):c.382G>C (p.Gly128Arg)	CADM3 (G162R +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 1712342	NM_001127173.3(CADM3):c.383del	CADM3	Deletion (splice acceptor variant)	Charcot-Marie-Tooth disease, axonal, type 2FF	GUncertain significance
Select item 1268234	NM_001127173.3(CADM3):c.413A>G (p.Tyr138Cys)	CADM3 (Y172C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, type 2FF	GLikely pathogenic
Select item 2549028	NM_001127173.3(CADM3):c.418T>C (p.Ser140Pro)	CADM3 (S174P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547579	NM_001127173.3(CADM3):c.427C>T (p.Arg143Trp)	CADM3 (R143W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545347	NM_001127173.3(CADM3):c.467G>A (p.Gly156Glu)	CADM3 (G190E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217634	NM_001127173.3(CADM3):c.523G>A (p.Glu175Lys)	CADM3 (E209K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609377	NM_001127173.3(CADM3):c.595A>G (p.Thr199Ala)	CADM3 (T199A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2205941	NM_001127173.3(CADM3):c.622G>A (p.Val208Met)	CADM3 (V208M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2376355	NM_001127173.3(CADM3):c.720C>A (p.Asp240Glu)	CADM3, CADM3-AS1 (D194E +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2490184	NM_001127173.3(CADM3):c.729T>A (p.His243Gln)	CADM3, CADM3-AS1 (H197Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2491373	NM_001127173.3(CADM3):c.991G>A (p.Ala331Thr)	CADM3-AS1, CADM3 (A365T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1710197	NM_001127173.3(CADM3):c.1000G>T (p.Gly334Cys)	CADM3, CADM3-AS1 (G288C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease, axonal, type 2FF	GUncertain significance
Select item 2439699	NM_001127173.3(CADM3):c.1061A>G (p.Tyr354Cys)	CADM3, CADM3-AS1 (Y308C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease, axonal, type 2FF	GUncertain significance
Select item 2455939	NM_001127173.3(CADM3):c.1093C>A (p.His365Asn)	CADM3, CADM3-AS1 (H319N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 1411942	NC_000001.10:g.(?_158581054)_(162750036_?)dup	TAGLN2, TOMM40L +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1340287	GRCh37/hg19 1q23.1-23.2(chr1:158822741-159244974)x3	ACKR1, AIM2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441719	GRCh37/hg19 1q23.1-23.2(chr1:158685035-159301350)x3	ACKR1, AIM2 +10 more	Copy number gain	See cases	GUncertain significance

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Items: 30